For a safe start

Dr Ruchi Gupta
Sunday, 25 February 2018

After delivery, all parents must have their babies screened for various rare but serious disorders as early diagnosis ensures early treatment

Most of the babies are born healthy except for some who may suffer from serious medical ailment which maybe genetic. Just in case to make sure that the baby does not  become sick after growing up, certain diagnosis are must for early treatment and a normal growth of the baby. Though basic screening tests are done immediately after the delivery to diagnose any congenital condition, many parents forgo supplemental screening which may be vital for the baby in the later stages. These tests look for developmental, metabolic and genetic disorders after birth in a baby.

Sometimes special treatment may be required for certain medical conditions that develop in babies born prematurely or with low birth weight. Special screening may be required for such infants as more than one blood withdrawal may be needed for accurate results and diagnosis.  

What must parents know about new-born screening?
Many new parents are unaware of how many tests and treatments their newborns will receive. Testing and preventive care for the baby starts during the pregnancy itself by injections through the mother. TDAP vaccinations during pregnancy will help prevent some serious conditions when the baby is born. Even though the ‘mother to be’ would have taken the injection previously, it is one of the mandates for the infant to boost immunity. Whooping cough is one of the leading causes for infant mortality or leading to terminal or chronic conditions. Prevention against tetanus, cough and diphtheria ensures better and a healthy growth.

The baby is safe from infections when it is inside the womb. It is safe due to mothers’ immunity and prenatal vaccinations administered to her. In India, when the babies are born they are prescribed to immunize with various vaccinations.
Hearing Test: The early few years are very critical for infant as they also develop speaking and language skills. If hearing loss is detected early, it can be treated to prevent interference with the development in the further stages.

Blood Test: Also known as ‘heel prick‘ test, this should be performed within 48 hours of birth. This test is done by pricking baby’s heel and putting few drops of blood on a special filter paper. It is done to detect developmental, metabolic and generic disorders that ultrasounds scans are unable to detect.
The blood test will help to evaluate any chance of potential complication that may need to be addressed. In the second phase there will be a quick check to analyse behaviour, breathing, activity and skin color.

Other tests recommended for all infants
Congenital  Hypothyroidism: Inadequate thyroid hormone production in newborn infants can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.
Congenital Adrenal Hyperplasia: To screen for any of several autosomal recessive diseases that affects a child’s normal growth and development. 
Fatty acid metabolism disorders: These disorders result from an inability of the body to produce or utilize an enzyme required to oxidize fatty acids.
Cystic Fibrosis: An inherited life-threatening disorder that damages the lungs and digestive system.
Galactosemia: A rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly.
Sickle cell disease: These type of blood disorders are typically inherited from the parents. The red blood cells become misshapen and break down.
G6PD deficiency: Almost exclusively in males, this inherited condition causes red blood cells to break down in response to certain medication, infections or other stresses.
Phenylketonuria(PKU): A birth defect that causes an amino acid called phenylalanine to build up in the body.
(Dr Ruchi Gupta is the founder and CEO of 3hcare.in, an online platform for information about neonatal care)

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